Advances in Sickle Cell Disease

Sickle cell disease (SCD) is an autosomal recessive disorder caused by a missense mutation in the HBB gene, which encodes the ß-subunit of adult hemoglobin. Now, recent insights into the regulatory mechanisms of red blood cell gene expression and emerging technologies to manipulate the genome are fueling innovative new therapies and potential cures for SCD.

Sickle cell disease in the lab

Discoveries made at St. Jude, in collaboration with investigators across the country, are rapidly advancing our appreciation for the nuances of gene editing, our understanding of the genomic regulatory landscape, and our capacity to implement new technologies in the therapeutic development pipeline. The insights gained from these studies hold the promise to transform the way we understand and treat sickle cell disease and other ß-hemoglobinopathies.

Revealing the link between oxygen and fetal hemoglobin control

Scientists at St. Jude Children’s Research Hospital have unveiled a link between the HIF1 protein's response to low oxygen conditions and increased expression of fetal hemoglobin in adults, potentially paving the way for innovative treatments in sickle cell disease and beta-thalassemia.

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Demonstrating a proof of concept for treating sickle cell disease

Scientists at St. Jude Children’s Research Hospital and the Broad Institute of MIT and Harvard showed how prime editing can correct the mutation that causes sickle cell disease in a potentially curative approach.

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Increasing fetal hemoglobin production with base editing

Scientists at St. Jude Children’s Research Hospital and the Broad Institute of MIT and Harvard found base editing increased fetal hemoglobin production in a new treatment for sickle cell disease and beta-thalassemia.

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Sickle Cell Disease Data Portal

The Sickle Cell Disease Portal offers robust genomic and clinical data from cohorts of individuals with sickle cell disease. This data, offered on St. Jude Cloud, is easily and securely available to academic researchers. Genetic modifiers strongly influence outcomes in sickle cell disease. The goal of the Sickle Cell Disease Portal is to promote global collaborative efforts to understand the genetic underpinnings of the disease and develop better therapies.

Explore the Data

Sickle cell disease in the clinic

Doctors and researchers work together to learn how to best treat children and manage their sickle cell disease, including sickle cell anemia and other disorders. Bridging the gap between treatment and research, St. Jude scientists are conducting a study to help uncover insights into the long-term effects of sickle cell disease, including sickle cell anemia and other disorders. In addition, St. Jude will sequence the genomes of 1,000 children with sickle cell disease to understand why some patients experience more severe symptoms.

Sickle Cell Clinical Research & Intervention Program

The Sickle Cell Clinical Research and Intervention Program (SCCRIP) studies the issues that a large group of sickle cell disease patients experience over time. St. Jude scientists want to know how sickle cell disease progresses throughout patients’ lives. The researchers also want to learn about the health and social effects of the disease and the long-term benefits of certain treatments.

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St. Jude Methodist Sickle Cell Disease Transition Clinic

To help expand research and clinical care for adult sickle cell disease patients in Memphis, St. Jude Children’s Research Hospital has formed a collaboration with Methodist Healthcare. We have developed new infrastructures to strengthen clinical research, generate new therapies and provide the best possible care for adult sickle cell patients, many of whom have received care as pediatric patients at St. Jude.

Learn More About the Clinic